Canonical Allele Identifier: CA1345183
Gene: KISS1 HGNC NCBI

Linked Data

dbSNP Id: rs748165435
ExAC: 1:204159880 C / T
gnomAD v2: 1-204159880-C-T
gnomAD v3: 1-204190752-C-T
gnomAD v4: 1-204190752-C-T
MyVariant Identifiers: chr1:g.204159880C>T (hg19) chr1:g.204190752C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.204190752C>T , CM000663.2:g.204190752C>T GRCh38
NC_000001.10:g.204159880C>T , CM000663.1:g.204159880C>T GRCh37
NC_000001.9:g.202426503C>T NCBI36
NG_032151.1:g.10740G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367194.5:c.149G>A MANE Select ENSP00000356162.4:p.Ser50Asn
ENST00000367194.4:c.149G>A ENSP00000356162.4:p.Ser50Asn
ENST00000625357.1:c.149G>A ENSP00000485957.1:p.Ser50Asn
NM_002256.3:c.149G>A NP_002247.3:p.Ser50Asn
XM_011509525.1:c.149G>A XP_011507827.1:p.Ser50Asn
NM_002256.4:c.149G>A MANE Select NP_002247.3:p.Ser50Asn
Search 100 bp 5'
Search 100 bp 3'